Incidental Mutation 'R7917:Kti12'
| ID |
648133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kti12
|
| Ensembl Gene |
ENSMUSG00000073775 |
| Gene Name |
KTI12 homolog, chromatin associated |
| Synonyms |
1110001A12Rik |
| MMRRC Submission |
045965-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7917 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108705054-108706609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 108705443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 119
(E119A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030296]
[ENSMUST00000102738]
[ENSMUST00000164855]
|
| AlphaFold |
Q9D1R2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030296
|
| SMART Domains |
Protein: ENSMUSP00000030296
Gene: ENSMUSG00000028567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin_7
|
37 |
118 |
1.1e-19 |
PFAM |
|
Pfam:Thioredoxin
|
41 |
135 |
1.9e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102738
AA Change: E119A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099799
Gene: ENSMUSG00000073775
AA Change: E119A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KTI12
|
1 |
347 |
3.3e-107 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164855
|
| SMART Domains |
Protein: ENSMUSP00000128780
Gene: ENSMUSG00000090551
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
64 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
T |
11: 109,958,933 (GRCm39) |
H730Q |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,408 (GRCm39) |
D506G |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,823,190 (GRCm39) |
M1T |
probably null |
Het |
| Ccnc |
T |
A |
4: 21,748,158 (GRCm39) |
N273K |
possibly damaging |
Het |
| Cfdp1 |
C |
A |
8: 112,567,033 (GRCm39) |
V159L |
possibly damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,334,638 (GRCm39) |
|
probably benign |
Het |
| Dsp |
C |
T |
13: 38,351,615 (GRCm39) |
Q145* |
probably null |
Het |
| Exosc9 |
G |
A |
3: 36,607,968 (GRCm39) |
V59I |
probably damaging |
Het |
| Fermt2 |
C |
G |
14: 45,699,318 (GRCm39) |
R592T |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,211,875 (GRCm39) |
S2381P |
probably damaging |
Het |
| Fscn2 |
G |
A |
11: 120,258,082 (GRCm39) |
E335K |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
| Hdac9 |
T |
A |
12: 34,483,209 (GRCm39) |
I93L |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,899,706 (GRCm39) |
D535G |
probably damaging |
Het |
| Ighv1-4 |
A |
T |
12: 114,451,165 (GRCm39) |
F9I |
possibly damaging |
Het |
| Il3ra |
T |
A |
14: 14,350,773 (GRCm38) |
H262Q |
possibly damaging |
Het |
| Mtg1 |
A |
T |
7: 139,727,178 (GRCm39) |
D227V |
probably damaging |
Het |
| Nrcam |
T |
G |
12: 44,620,546 (GRCm39) |
|
probably null |
Het |
| Or13g1 |
T |
C |
7: 85,955,686 (GRCm39) |
T212A |
probably damaging |
Het |
| Or4f57 |
A |
C |
2: 111,791,310 (GRCm39) |
V36G |
probably damaging |
Het |
| Or8b1 |
T |
A |
9: 38,399,905 (GRCm39) |
Y193* |
probably null |
Het |
| Pcdha1 |
T |
A |
18: 37,065,254 (GRCm39) |
D639E |
possibly damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,669 (GRCm39) |
V575E |
possibly damaging |
Het |
| Pcif1 |
G |
T |
2: 164,730,392 (GRCm39) |
R375L |
probably benign |
Het |
| Pcna |
A |
T |
2: 132,094,929 (GRCm39) |
S10T |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,333,518 (GRCm39) |
S168P |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,885,650 (GRCm39) |
D1842E |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,040 (GRCm39) |
N117Y |
probably damaging |
Het |
| Scnn1g |
T |
C |
7: 121,342,916 (GRCm39) |
Y290H |
probably damaging |
Het |
| Sri |
T |
C |
5: 8,113,409 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
C |
4: 94,708,372 (GRCm39) |
V361A |
possibly damaging |
Het |
| Terf1 |
T |
A |
1: 15,889,300 (GRCm39) |
L243Q |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,069,213 (GRCm39) |
T646I |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 821,274 (GRCm39) |
I86V |
probably benign |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,727 (GRCm39) |
S720P |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,421 (GRCm39) |
N879D |
possibly damaging |
Het |
| Zfp266 |
T |
C |
9: 20,416,423 (GRCm39) |
T56A |
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,358,991 (GRCm39) |
I541N |
probably damaging |
Het |
|
| Other mutations in Kti12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02608:Kti12
|
APN |
4 |
108,705,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02891:Kti12
|
APN |
4 |
108,705,730 (GRCm39) |
missense |
probably benign |
|
|
IGL03142:Kti12
|
APN |
4 |
108,705,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB002:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB003:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB003:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB004:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB004:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB006:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB006:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB012:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB012:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB013:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB013:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB014:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB014:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB016:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB016:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R0518:Kti12
|
UTSW |
4 |
108,705,776 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1681:Kti12
|
UTSW |
4 |
108,706,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Kti12
|
UTSW |
4 |
108,705,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Kti12
|
UTSW |
4 |
108,705,620 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6652:Kti12
|
UTSW |
4 |
108,705,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6774:Kti12
|
UTSW |
4 |
108,705,652 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7123:Kti12
|
UTSW |
4 |
108,705,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7856:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7856:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7858:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7858:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7859:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7859:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7914:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7914:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7915:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7915:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7916:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7916:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7917:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7918:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7918:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7925:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7925:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7926:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7926:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7927:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7927:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7929:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7929:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R8099:Kti12
|
UTSW |
4 |
108,705,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Kti12
|
UTSW |
4 |
108,705,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9567:Kti12
|
UTSW |
4 |
108,705,935 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGATGCCCCTGGAGATCATG -3'
(R):5'- GGCAGGATTTCCTCTGGATC -3'
Sequencing Primer
(F):5'- TGGAGATCATGCCGCTCGTC -3'
(R):5'- GGATCCAGTTCCTTTGAGACAGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation